Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

doi:10.1016/j.gim.2025.101446

Article

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2025

Stafford-Smith Bethany, Daniel Morgan, Peter Michelle, Gurasashvili Jana, Baptiste Rashida, Bracke-Manzanares Xavier, Georgiou Lamprini, Green-Armytage Adele, Griffin Blanche, Lumborg Bethany, Paternoster Ben, Smith Emma, Balasubramanian Meena, Bownass Lucy, Brennan Paul, Cleaver Ruth, Clowes Virginia, Costello Philandra, DeSouza Bianca, Dubois Louise, George Angela, George Elaine, Harrison Rachel, Hawkes Lara, Humphries Steve E, Jones Alan, Jones Elizabeth A, Kraus Alison, Holiday Deborah, McEntagart Meriel, Somarathi Suresh, Taylor Amy, Tripathi Vishakha, Morris Stephen, Chitty Lyn S, Hill Melissa

Abstract excerpt

PURPOSE: The 100,000 Genomes Project participants could consent to receive additional findings (AFs) for variants associated with susceptibility to cancer and familial hypercholesterolemia. Here, we evaluate stakeholder experiences to inform clinical practice. METHODS: Mixed-methods study conducted at 18 sites across England that comprised a cross-sectional survey and interviews with participants who received a...

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Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

Abstract excerpt

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